Incidental Mutation 'R4613:Fgf20'
ID 350974
Institutional Source Beutler Lab
Gene Symbol Fgf20
Ensembl Gene ENSMUSG00000031603
Gene Name fibroblast growth factor 20
MMRRC Submission 041824-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4613 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 40279166-40308331 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40286611 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 33 (R33G)
Ref Sequence ENSEMBL: ENSMUSP00000034014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034014] [ENSMUST00000118639]
AlphaFold Q9ESL9
Predicted Effect probably benign
Transcript: ENSMUST00000034014
AA Change: R33G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034014
Gene: ENSMUSG00000031603
AA Change: R33G

low complexity region 35 53 N/A INTRINSIC
FGF 63 194 3.3e-78 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118639
SMART Domains Protein: ENSMUSP00000112756
Gene: ENSMUSG00000031603

FGF 6 140 2.08e-47 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the fibroblast growth factor family. The fibroblast growth factors possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene product is a secreted neurotrophic factor but lacks a typical signal peptide. It is expressed in normal brain, particularly the cerebellum, and may regulate central nervous system development and function. Homodimerization of this protein was shown to regulate its receptor binding activity and concentration gradient in the extracellular matrix. Genetic variations of this gene have been associated with Parkinson disease susceptibility. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit imapired coclear lateral compartment differentiation and deafness without loss of vestibular function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik A T 17: 48,128,557 (GRCm38) L130I probably benign Het
Abca9 A G 11: 110,144,784 (GRCm38) V670A probably benign Het
Adad1 A G 3: 37,092,033 (GRCm38) N517D probably damaging Het
Ankle2 T C 5: 110,231,379 (GRCm38) L48P probably benign Het
Aoc3 A T 11: 101,337,659 (GRCm38) probably benign Het
Areg A G 5: 91,143,504 (GRCm38) K102R probably benign Het
Bmp1 T C 14: 70,508,523 (GRCm38) T167A probably damaging Het
C4b C T 17: 34,734,551 (GRCm38) G986D probably benign Het
Caml G T 13: 55,625,142 (GRCm38) G200C probably damaging Het
Ccdc40 A C 11: 119,231,532 (GRCm38) R53S probably benign Het
Cdh22 T A 2: 165,143,656 (GRCm38) I337L probably benign Het
Col12a1 A T 9: 79,647,601 (GRCm38) V2065D probably benign Het
Copg2 A G 6: 30,811,596 (GRCm38) S591P probably benign Het
Cyp2d34 G A 15: 82,616,325 (GRCm38) P438S probably damaging Het
Dchs1 T C 7: 105,772,724 (GRCm38) D163G probably damaging Het
Depdc1b T C 13: 108,363,643 (GRCm38) V230A probably damaging Het
Depdc5 T A 5: 32,975,446 (GRCm38) L1300H probably damaging Het
Dnah10 G T 5: 124,762,869 (GRCm38) probably null Het
Dsc2 A T 18: 20,041,819 (GRCm38) D466E probably damaging Het
Dthd1 A G 5: 62,827,068 (GRCm38) D372G probably damaging Het
Eogt G T 6: 97,134,304 (GRCm38) Q199K probably benign Het
Epha6 C A 16: 59,666,597 (GRCm38) R1029L possibly damaging Het
Eppin C A 2: 164,589,323 (GRCm38) E128* probably null Het
Fam102b A T 3: 109,027,255 (GRCm38) F23I probably benign Het
Fam160b1 C A 19: 57,371,187 (GRCm38) P53Q probably damaging Het
Fgg A G 3: 83,010,090 (GRCm38) N142S probably damaging Het
Gba C T 3: 89,208,644 (GRCm38) probably null Het
Gli2 A G 1: 118,837,511 (GRCm38) V970A probably damaging Het
Gramd1b A T 9: 40,307,993 (GRCm38) V508D probably damaging Het
Gucy2c T A 6: 136,708,321 (GRCm38) D898V probably damaging Het
Kcnj15 T C 16: 95,295,794 (GRCm38) Y92H probably damaging Het
L3mbtl3 A T 10: 26,282,795 (GRCm38) S652T unknown Het
Ldb2 G T 5: 44,476,551 (GRCm38) Q326K probably benign Het
Lipi C A 16: 75,560,801 (GRCm38) R292L probably benign Het
Lrrc36 G A 8: 105,449,614 (GRCm38) V207I possibly damaging Het
Lyplal1 C T 1: 186,088,752 (GRCm38) G166D probably benign Het
Map1b A T 13: 99,430,302 (GRCm38) Y1970* probably null Het
Map2 A G 1: 66,425,469 (GRCm38) N287D probably damaging Het
Map3k11 A T 19: 5,697,470 (GRCm38) Q578L probably benign Het
Map3k11 G T 19: 5,697,471 (GRCm38) Q578H probably damaging Het
Map4k4 G A 1: 40,017,191 (GRCm38) S1012N probably benign Het
Mapk13 A T 17: 28,769,452 (GRCm38) N15Y probably damaging Het
Mapk15 G A 15: 75,995,910 (GRCm38) A125T probably damaging Het
Mrgprb1 C A 7: 48,447,708 (GRCm38) R152L possibly damaging Het
Muc5ac T G 7: 141,791,103 (GRCm38) Y104D possibly damaging Het
Myo1h A G 5: 114,348,379 (GRCm38) N566S possibly damaging Het
Myo1h C A 5: 114,351,676 (GRCm38) H647Q probably benign Het
Neo1 A G 9: 58,889,041 (GRCm38) I1201T possibly damaging Het
Nlgn1 T C 3: 25,436,022 (GRCm38) T514A probably benign Het
Olfr120 A G 17: 37,726,696 (GRCm38) Y224C probably damaging Het
Olfr533 A T 7: 140,467,068 (GRCm38) Y289F probably damaging Het
Olfr8 A G 10: 78,956,065 (GRCm38) N287D probably damaging Het
Olfr985 T A 9: 40,127,722 (GRCm38) K80* probably null Het
Orc2 A T 1: 58,500,309 (GRCm38) L57* probably null Het
Otoa G A 7: 121,145,568 (GRCm38) V850M probably damaging Het
Pcnx3 T C 19: 5,667,219 (GRCm38) T1579A possibly damaging Het
Pde5a A T 3: 122,823,093 (GRCm38) Y564F probably damaging Het
Pdxk A C 10: 78,447,919 (GRCm38) I147S probably damaging Het
Pfdn5 A G 15: 102,328,752 (GRCm38) D108G probably benign Het
Pink1 T C 4: 138,317,310 (GRCm38) D342G probably damaging Het
Prkacb A T 3: 146,737,998 (GRCm38) V336E probably damaging Het
Ptpro C A 6: 137,416,836 (GRCm38) S13* probably null Het
Rfng A G 11: 120,782,650 (GRCm38) L215P probably damaging Het
Rpn2 T C 2: 157,302,425 (GRCm38) F336L possibly damaging Het
Sacs A G 14: 61,211,797 (GRCm38) probably null Het
Sirpb1a T A 3: 15,417,037 (GRCm38) Y77F probably benign Het
Skiv2l2 C A 13: 112,921,739 (GRCm38) E53* probably null Het
Slc30a8 A G 15: 52,333,575 (GRCm38) D294G probably benign Het
Sox13 T C 1: 133,388,934 (GRCm38) I212V probably benign Het
Srebf2 T A 15: 82,185,348 (GRCm38) I657N possibly damaging Het
Srsf6 C A 2: 162,933,709 (GRCm38) T146K probably benign Het
Strn4 T C 7: 16,824,163 (GRCm38) V162A possibly damaging Het
Sulf2 T C 2: 166,132,605 (GRCm38) D53G probably damaging Het
Tbc1d8 T A 1: 39,372,708 (GRCm38) I1016F probably damaging Het
Tfrc G T 16: 32,618,657 (GRCm38) A278S probably damaging Het
Tnrc6a T G 7: 123,184,289 (GRCm38) probably null Het
Vmn1r83 T C 7: 12,321,768 (GRCm38) I121V probably benign Het
Vps13d T C 4: 145,131,655 (GRCm38) S2200G possibly damaging Het
Washc2 T A 6: 116,229,269 (GRCm38) D397E probably damaging Het
Wipf3 T C 6: 54,485,555 (GRCm38) L250P probably damaging Het
Xirp1 A G 9: 120,019,682 (GRCm38) F45S probably damaging Het
Xpo5 A G 17: 46,236,963 (GRCm38) T910A probably benign Het
Zfp235 T C 7: 24,141,676 (GRCm38) Y507H probably damaging Het
Other mutations in Fgf20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02730:Fgf20 APN 8 40,279,787 (GRCm38) missense probably damaging 0.99
IGL03365:Fgf20 APN 8 40,279,891 (GRCm38) missense possibly damaging 0.95
mermaid UTSW 8 40,281,148 (GRCm38) missense probably damaging 0.98
LCD18:Fgf20 UTSW 8 40,292,318 (GRCm38) intron probably benign
R1893:Fgf20 UTSW 8 40,279,803 (GRCm38) missense possibly damaging 0.49
R4067:Fgf20 UTSW 8 40,279,855 (GRCm38) missense probably benign 0.00
R6166:Fgf20 UTSW 8 40,279,840 (GRCm38) missense probably damaging 0.98
R6280:Fgf20 UTSW 8 40,281,112 (GRCm38) nonsense probably null
R6869:Fgf20 UTSW 8 40,281,148 (GRCm38) missense probably damaging 0.98
R7561:Fgf20 UTSW 8 40,279,934 (GRCm38) missense possibly damaging 0.92
R7739:Fgf20 UTSW 8 40,279,896 (GRCm38) missense probably damaging 1.00
R8191:Fgf20 UTSW 8 40,308,320 (GRCm38) start gained probably benign
R9144:Fgf20 UTSW 8 40,279,917 (GRCm38) missense
R9261:Fgf20 UTSW 8 40,286,910 (GRCm38) intron probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-10-08